rs4785223

Variant names:

• chr16-50682137-A-G
• rs4785223

Your query was ambiguous. Multiple possible variants found:

• chr16-50682137-A-G
• chr16-50682137-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.615 in 152,112 control chromosomes in the GnomAD database, including 30,563 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.62 (30563 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.650
• Publications: 8 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.724 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.616 AC: 93589 AN: 151994 Hom.: 30571 Cov.: 33

Gnomad AFR AF: 0.504

Gnomad AMI AF: 0.750

Gnomad AMR AF: 0.551

Gnomad ASJ AF: 0.813

Gnomad EAS AF: 0.127

Gnomad SAS AF: 0.354

Gnomad FIN AF: 0.692

Gnomad MID AF: 0.661

Gnomad NFE AF: 0.730

Gnomad OTH AF: 0.630

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.615 AC: 93604 AN: 152112 Hom.: 30563 Cov.: 33 AF XY: 0.607 AC XY: 45118 AN XY: 74354

African (AFR) AF: 0.503 AC: 20877 AN: 41474

American (AMR) AF: 0.551 AC: 8418 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.813 AC: 2820 AN: 3468

East Asian (EAS) AF: 0.127 AC: 657 AN: 5182

South Asian (SAS) AF: 0.354 AC: 1708 AN: 4828

European-Finnish (FIN) AF: 0.692 AC: 7311 AN: 10568

Middle Eastern (MID) AF: 0.660 AC: 194 AN: 294

European-Non Finnish (NFE) AF: 0.730 AC: 49614 AN: 67986

Other (OTH) AF: 0.625 AC: 1321 AN: 2112

Alfa AF: 0.618 Hom.: 2884

Bravo AF: 0.601

Asia WGS AF: 0.246 AC: 860 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.54
DANN	Benign	0.38
PhyloP100		-0.65

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs4785223; hg19: chr16-50716048;